Evidence Details for PSD3
Basic Information Top
| Gene Symbol: | PSD3 ( DKFZp761K1423,EFA6R,HCA67 ) |
|---|---|
| Gene Full Name: | pleckstrin and Sec7 domain containing 3 |
| Band: | 8p22 |
| Quick Links | Entrez ID:23362; OMIM: NA; Uniprot ID:PSD3_HUMAN; ENSEMBL ID: ENSG00000156011; HGNC ID: 19093 |
| Relate to Another Database: | SFARIGene; denovo-db |
Sequences Top>PSD3|23362|nucleotide
ATGGAAGGAAGGAGCGCAGCGGCAGAGACATTTGTTTGGGTGAACAATGCATCTGCACATTCCCAGAGTGTTGCCAAGGCCAAATATGAATTTTTATTTGGCAGA
TCTGAAGGGAAAGCTCCAGATACTAGTGATCATGGAGGAAGCACTTTACTCCCACCAAATGTCACAAATGAATTTCCAGAATATGGGACCATGGAGGAAGGTGGA
GAAGGCCTAAGGGCTTCTCTGGAATTTGATGGTGAGGCTCTGCCATGCCACCCACAAGAGCAGCAGGGTGTCCAGCCTCTTACTGGCTGCCACTCTGGGCTCGAC
AGTGTTACAGAAGGACCAAAAGATGTCAGAGAGGCCCCCTCTCAAAGTCATCTCAAGGAACAAAGTTTACAGCCCATTGACTCTTTGATTTCAGCTCTGAAAGCC
ACAGAAGCCAGAATCATTTCCGGAACATTACAGGCTACAAAGGTACTGGACCAAGATGCTGTTTCTAGTTTTTCAGTTCAGCAGGTGGAAAAAGAGCTGGACACT
GCCAGTCGTAAAACACAGAGAGTCAACAAAACGCTCCCTGCTGGCCAAAAAAATTTACCAGAAATACCTCTTTCAGCTGAAGTAACAACGGAGGAAAGTTTTTAT
TTGAGCATCCAGAAAGATCTCACCGCGCTGTTAACTGGAGACACTCAGGCAGAGATTTCCCAGATAATGAATAATGGGAGGAAAGGGGCTGTCTGTGTGCAGGAG
CCATCTTGTCCTTTGGCCTCCCTCGGGAGCTCAGCAGTGACCTGCCACTCTGCAGGCAGTGTTGGTTTCTTGAAAGAGCAGAGGTCTGCTCTTGGGAGAGAGCAC
CCAGGGGGATGTGATCGAAGCAGCTCCATGGGACGCCCAGGCCGGGTCAAACATGTGGAATTTCAAGGAGTGGAAATACTGTGGACAGGAGGAGACAAGAGAGAG
ACCCAGCATCCTATAGATTTTGAGACATCACTGCAAAGAACAGCCTCTCCTGACAGCAAAGAGTCTTCCAAAGTGCCACGCCATCTCATCTCATCAGCTGGTTTG
TGTAATTCAAGTAGTTTAACTGAGAATGTTTGGGATGAATCCTGGAAAGCTCCTTCAGAGAGGCCTGGCACTAGCTCGGGGACATTTTCCCCTGTGCGTCTTGAT
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ATGGAAGGAAGGAGCGCAGCGGCAGAGACATTTGTTTGGGTGAACAATGCATCTGCACATTCCCAGAGTGTTGCCAAGGCCAAATATGAATTTTTATTTGGCAGA
TCTGAAGGGAAAGCTCCAGATACTAGTGATCATGGAGGAAGCACTTTACTCCCACCAAATGTCACAAATGAATTTCCAGAATATGGGACCATGGAGGAAGGTGGA
GAAGGCCTAAGGGCTTCTCTGGAATTTGATGGTGAGGCTCTGCCATGCCACCCACAAGAGCAGCAGGGTGTCCAGCCTCTTACTGGCTGCCACTCTGGGCTCGAC
AGTGTTACAGAAGGACCAAAAGATGTCAGAGAGGCCCCCTCTCAAAGTCATCTCAAGGAACAAAGTTTACAGCCCATTGACTCTTTGATTTCAGCTCTGAAAGCC
ACAGAAGCCAGAATCATTTCCGGAACATTACAGGCTACAAAGGTACTGGACCAAGATGCTGTTTCTAGTTTTTCAGTTCAGCAGGTGGAAAAAGAGCTGGACACT
GCCAGTCGTAAAACACAGAGAGTCAACAAAACGCTCCCTGCTGGCCAAAAAAATTTACCAGAAATACCTCTTTCAGCTGAAGTAACAACGGAGGAAAGTTTTTAT
TTGAGCATCCAGAAAGATCTCACCGCGCTGTTAACTGGAGACACTCAGGCAGAGATTTCCCAGATAATGAATAATGGGAGGAAAGGGGCTGTCTGTGTGCAGGAG
CCATCTTGTCCTTTGGCCTCCCTCGGGAGCTCAGCAGTGACCTGCCACTCTGCAGGCAGTGTTGGTTTCTTGAAAGAGCAGAGGTCTGCTCTTGGGAGAGAGCAC
CCAGGGGGATGTGATCGAAGCAGCTCCATGGGACGCCCAGGCCGGGTCAAACATGTGGAATTTCAAGGAGTGGAAATACTGTGGACAGGAGGAGACAAGAGAGAG
ACCCAGCATCCTATAGATTTTGAGACATCACTGCAAAGAACAGCCTCTCCTGACAGCAAAGAGTCTTCCAAAGTGCCACGCCATCTCATCTCATCAGCTGGTTTG
TGTAATTCAAGTAGTTTAACTGAGAATGTTTGGGATGAATCCTGGAAAGCTCCTTCAGAGAGGCCTGGCACTAGCTCGGGGACATTTTCCCCTGTGCGTCTTGAT
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>PSD3|23362|protein
MEGRSAAAETFVWVNNASAHSQSVAKAKYEFLFGRSEGKAPDTSDHGGSTLLPPNVTNEFPEYGTMEEGGEGLRASLEFDGEALPCHPQEQQGVQPLTGCHSGLD
SVTEGPKDVREAPSQSHLKEQSLQPIDSLISALKATEARIISGTLQATKVLDQDAVSSFSVQQVEKELDTASRKTQRVNKTLPAGQKNLPEIPLSAEVTTEESFY
LSIQKDLTALLTGDTQAEISQIMNNGRKGAVCVQEPSCPLASLGSSAVTCHSAGSVGFLKEQRSALGREHPGGCDRSSSMGRPGRVKHVEFQGVEILWTGGDKRE
TQHPIDFETSLQRTASPDSKESSKVPRHLISSAGLCNSSSLTENVWDESWKAPSERPGTSSGTFSPVRLDESGEDEVFLQENKQHLEKTPKPERDRERISEQEEH
VKGEDEDILGPGYTEDSTDVYSSQFETILDNTSLYYSAESLETLYSEPDSYFSFEMPLTPMIQQRIKEGGQFLERTSGGGHQDILSVSADGGIVMGYSSGVTNGL
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MEGRSAAAETFVWVNNASAHSQSVAKAKYEFLFGRSEGKAPDTSDHGGSTLLPPNVTNEFPEYGTMEEGGEGLRASLEFDGEALPCHPQEQQGVQPLTGCHSGLD
SVTEGPKDVREAPSQSHLKEQSLQPIDSLISALKATEARIISGTLQATKVLDQDAVSSFSVQQVEKELDTASRKTQRVNKTLPAGQKNLPEIPLSAEVTTEESFY
LSIQKDLTALLTGDTQAEISQIMNNGRKGAVCVQEPSCPLASLGSSAVTCHSAGSVGFLKEQRSALGREHPGGCDRSSSMGRPGRVKHVEFQGVEILWTGGDKRE
TQHPIDFETSLQRTASPDSKESSKVPRHLISSAGLCNSSSLTENVWDESWKAPSERPGTSSGTFSPVRLDESGEDEVFLQENKQHLEKTPKPERDRERISEQEEH
VKGEDEDILGPGYTEDSTDVYSSQFETILDNTSLYYSAESLETLYSEPDSYFSFEMPLTPMIQQRIKEGGQFLERTSGGGHQDILSVSADGGIVMGYSSGVTNGL
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Evidence summary TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default.
| Evidences | Syndromic Gene | GWAS | CNV | Linkage | Association | Expression | NGS de novo | NGS Mosaic | NGS Other | Low-Scale Gene Studies | Total |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Score (No. of Studies) | No | 3 (4) | 1 (4) | 1 (1) | 0 (0) | 0 (0) | 0 (1) | 0 (0) | 0 (0) | 0 (0) | 16 (10) |
Syndromic Autism Gene TopGenome-Wide Association Studies (By Ethnic Group) Top Family Based Association Studies: 4
| Reference | Stage | Platform | #Families | Affecteds | Result | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ (range) |
||||||
| CAUCASIAN | |||||||||||
| Ma, 2009_1 | Discovery | Illumina's Human 1M v1 Beadchip | 438 | - (-) |  |  | ASD | - - |
- - | ||
| Hussman, 2011_1 | Discovery | Illumina Infinium Human 1 M beadship | 597 | - (-) | | | ASD | - - |
- - | ||
| ASIAN | |||||||||||
| Cho, 2011_1 | - | FUJIFLM DNA Whole Blood Kit S and QuickGene 810 | 42 | 42 (-) | | | ASD | 77.7±22.6 months (49-149) months |
46.2±12.2 (31-65) | ||
| MIXED/OTHERS | |||||||||||
| Connolly S, 2017_2 | - | Illumina 1Mv1;Illumina 1Mv3 Duo; Illumina HumanOmni2.5 M | 2591 | - (-) | | | ASD | - - |
- - | ||
Case Control Based Association Studies: 0
| Reference | Stage | Platform | ASD Cases | Normal Controls | Result | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| #Subjects (% Women) |
ADI-R | ADOS | Diagnosis | Age (range) |
IQ | #Subjects (% Women) |
Age (range) |
|||||
| No Evidence. | ||||||||||||
CNV Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Papanikolaou, 2006 | - | FISH | | | autism | - | - | - | - | 1 | - | 1 |
| Ozgen, 2009 | - | aCGH, SNP microarray | | | ASD | 55 | - | - | - | - | - | - |
| Berkel, 2010 | Canada | SNP microarray | | | ASD | - | - | - | - | 396 | 5023 | 5419 |
| Pinto, 2010 | - | SNP microarray, qPCR | | | ASD | - | - | - | - | 996 | 1287 | 2283 |
Linkage Studies Top| Reference | Source | Method | ADI-R | ADOS | Diagnosis | Family | Individual | |||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Total | Simplex | Multiplex | Control | Affected | Control | Total | ||||||
| Monaco, 2001 | - | microsatellite-based genomic screen | | | PDD | 152 | - | 152 | - | - | - | - |
Low Scale Association Studies (by Ethnic Group) TopLarge Scale Expression Studies TopNGS de novo Mutation Studies Top| Reference | Case Number | Family Number | de novo Number | Title |
|---|---|---|---|---|
| Redin C, 2017 | 28 | - | 34 | The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomali |
NGS Mosaic SNV Studies TopNGS Other Studies Top Low Scale Gene Studies TopContact Us if you are an author of a study regarding this gene and do not find your study in this table or find errors in the representation of your study details.